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Clin Med Res 2021 May 13. Epub 2021 May 13.

Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

McArdle disease, also known as glycogen storage disease type V, is an autosomal recessive disease due to the absence of myophosphorylase activity, leading to the complete disruption of glycogen breakdown in muscles. We present a rare case of a Caucasian male, aged 26-years, who developed rhabdomyolysis-induced acute renal failure and uremic encephalopathy. Neurological examination and histopathological studies supported the diagnosis of McArdle disease. Read More

Clin Biomech (Bristol, Avon) 2021 02 23;82:105277. Epub 2021 Jan 23.

Department of Neurology, Mayo Clinic, Rochester, MN, USA.

Background: McArdle sign is a phenomenon of impaired gait and muscle weakness that occurs with neck flexion, immediately reversible with neck extension. A recent report measured the specificity of this sign for multiple sclerosis by measuring differences in peak torque of the extensor digitorum between neck extension and flexion.

Methods: This substudy included 73 participants (29 multiple sclerosis, 20 non-multiple sclerosis myelopathies, 5 peripheral nerve disorders, and 19 healthy controls). Read More

BMC Geriatr 2020 11 5;20(1):451. Epub 2020 Nov 5.

Internal Medicine Service, Oswaldo Cruz German Hospital, Rua Treze de Maio, 1815 - Bairro Bela Vista, São Paulo, SP, 01323-020, Brazil.

Background: McArdle disease is a myopathy caused by mutations in PYGM gene that is characterized by reduced or absent activity of myophosphorylase. Reports of patients with concomitant McArdle disease and diabetes are scarce. We report a case of a patient with a late diagnosis of McArdle disease and we postulate that symptoms may be related to hypoinsulinemia. Read More

Orphanet J Rare Dis 2020 10 15;15(1):187. Epub 2020 Oct 15.

Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Pg. Vall d'Hebron 119, 08035, Barcelona, Catalonia, Spain.

Background: International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. Our objective was to create and implement a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) and to disseminate the knowledge of these disorders.

Results: Teams from nine different countries (United Kingdom, Spain, Italy, France, Germany, Denmark, Greece, Turkey and USA) created a consortium that developed the first European registry dedicated to rare muscle glycogenoses. Read More

Neuromuscul Disord 2020 10 25;30(10):862-865. Epub 2020 Aug 25.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Dubowitz Neuromuscular Centre UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, United Kingdom.

The maximum distance achieved on a modified 12 min walk test (12MWT) is a well-established measure in McArdle disease glycogen storage disease type V (GSDV). Age, height, body mass and gender are known predictors of walking distance in other patient groups. Reference values to correct for these predictors are necessary for comparisons between individuals. Read More

Neuromuscul Disord 2020 09 16;30(9):734-741. Epub 2020 May 16.

UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, United Kingdom. Electronic address:

McArdle disease results from a lack of muscle glycogen phosphorylase in skeletal muscle tissue. Regenerating skeletal muscle fibres can express the brain glycogen phosphorylase isoenzyme. Stimulating expression of this enzyme could be a therapeutic strategy. Read More

Curr Opin Endocrinol Diabetes Obes 2020 10;27(5):283-290

Centre for Human Performance, Exercise and Rehabilitation, Brunel University, London, UK.

Purpose Of Review: To explore the potential of a low carbohydrate ketogenic diet (LCKD) to counter physical activity intolerance, pain and muscle damage for glycogen storage disease (GSD) V and VII, and highlight the realistic possibility that nutrition could be key.

Recent Findings: Carbohydrate (CHO) ingestion during physical activity in GSDV and a LCKD for GSDVII is common. For the latter, a long-term study demonstrated improvement in physiological markers while on a LCKD. Read More

PLoS One 2020 31;15(7):e0236597. Epub 2020 Jul 31.

Laboratório de análises clínicas do Centro Universitário Saúde ABC, Santo Andre, São Paulo, Brazil.

Introduction: McArdle disease presents clinical and genetic heterogeneity. There is no obvious association between genotype and phenotype. PYGM (muscle glycogen phosphorylase gene) mRNA expression and its association with clinical, morphological, and genetic aspects of the disease as a set have not been studied previously. Read More

Int J Environ Res Public Health 2020 06 17;17(12). Epub 2020 Jun 17.

GENUD Toledo Research Group, Universidad de Castilla-La Mancha, 45071 Toledo, Spain.

McArdle disease (glycogenosis-V) is associated with exercise intolerance, however, how it affects an important marker of cardiometabolic health as it is adiposity remains unknown. We evaluated the association between physical activity (PA) and adiposity in patients with McArdle disease. We assessed 199 adults of both sexes (51 McArdle patients (36 ± 11 years) and 148 healthy controls (35 ± 10 years)). Read More

Sci Rep 2020 06 1;10(1):8865. Epub 2020 Jun 1.

Department of Sport Medicine and Functional Explorations-CRNH Auvergne, Clermont-Ferrand University Hospital, G. Montpied Hospital, Clermont-Ferrand, F-63000, France.

Metabolic myopathies comprise a diverse group of inborn errors of intermediary metabolism affecting skeletal muscle, and often present clinically as an inability to perform normal exercise. Our aim was to use the maximal mechanical performances achieved during two functional tests, isometric handgrip test and cycloergometer, to identify metabolic myopathies among patients consulting for exercise-induced myalgia. Eighty-three patients with exercise-induced myalgia and intolerance were evaluated, with twenty-three of them having a metabolic myopathy (McArdle, n = 9; complete myoadenylate deaminase deficiency, n = 10; respiratory chain deficiency, n = 4) and sixty patients with non-metabolic myalgia. Read More

Sci Rep 2020 05 29;10(1):8765. Epub 2020 May 29.

Department of Sport Medicine and Functional Explorations-CRNH Auvergne, Clermont-Ferrand University Hospital, G. Montpied Hospital, Clermont-Ferrand, F-63000, France.

Metabolic myopathies are muscle disorders caused by a biochemical defect of the skeletal muscle energy system resulting in exercise intolerance. The primary aim of this research was to evaluate the oxygen cost (∆V'O/∆Work-Rate) during incremental exercise in patients with metabolic myopathies as compared with patients with non-metabolic myalgia and healthy subjects. The study groups consisted of eight patients with muscle glycogenoses (one Tarui and seven McArdle diseases), seven patients with a complete and twenty-two patients with a partial myoadenylate deaminase (MAD) deficiency in muscle biopsy, five patients with a respiratory chain deficiency, seventy-three patients with exercise intolerance and normal muscle biopsy (non-metabolic myalgia), and twenty-eight healthy controls. Read More

Pediatr Emerg Care 2020 Mar 19. Epub 2020 Mar 19.

Pediatric Emergency Medicine, University of Alabama at Birmingham, Birmingham, AL.

Repeated presentations of a rare symptom in a patient should make a physician stop and evaluate for rare conditions. This is a report of a teenager with multiple episodes of rhabdomyolysis and weakness. He was eventually diagnosed as having McArdle muscular dystrophy, or glycogen storage disease type V. Read More

Prog Neurobiol 2020 06 6;189:101787. Epub 2020 Mar 6.

Neurology Service, San Francisco Veterans Affairs Health Care System, San Francisco, CA 94121, USA; Dept. of Neurology, University of California San Francisco, San Francisco, CA 94143, USA. Electronic address:

Brain and muscle glycogen are generally thought to function as local glucose reserves, for use during transient mismatches between glucose supply and demand. However, quantitative measures show that glucose supply is likely never rate-limiting for energy metabolism in either brain or muscle under physiological conditions. These tissues nevertheless do utilize glycogen during increased energy demand, despite the availability of free glucose, and despite the ATP cost of cycling glucose through glycogen polymer. Read More

Ophthalmic Genet 2020 02 3;41(1):73-78. Epub 2020 Mar 3.

Department of BioMedical Research, University of Bern, Bern, Switzerland.

: We present a longitudinal clinical characterization of -linked pattern dystrophy in an adult male patient.: A patient affected by McArdle disease (glycogen storage disease type V) and homozygous for the nonsense variant c.148C>T p. Read More

J Endocrinol Invest 2020 May 25;43(5):697-698. Epub 2020 Feb 25.

Department of Endocrinology, The Third Xiangya Hospital Central South University, Tongzipo Road, Hunan Province, 410007, Changsha, People's Republic of China.

J Inherit Metab Dis 2020 07 24;43(4):778-786. Epub 2020 Feb 24.

Copenhagen Neuromuscular Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

Glycogen storage disease type V (GSDV) is a rare inborn error of carbohydrate metabolism. Patients present with exercise intolerance due to blocked glycogen breakdown in skeletal muscle. Introducing alternative fuel substrates, such as ketone bodies (KBs), could potentially alleviate muscle symptoms. Read More

Anaesth Rep 2019 Jul-Dec;7(2):73-75. Epub 2019 Aug 19.

Washington University in St. Louis Missouri USA.

McArdle disease (glycogen storage disease type V) is a rare, autosomal recessive disorder with an incidence of roughly 1:100,000. Despite concern that labour could predispose these patients to muscle damage, there are no evidence-based guidelines for the management of labour and delivery in this population. We describe the case of a nulliparous parturient with both McArdle disease and adenosine monophosphate deaminase 1 deficiency who developed rhabdomyolysis after vaginal delivery. Read More

Acta Myol 2019 Dec 1;38(4):215-232. Epub 2019 Dec 1.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.

Muscle and lower motor neuron diseases share a common denominator of perturbed muscle function, most often related to wasting and weakness of muscles. This leads to a number of challenges, such as restricted mobility and respiratory difficulties. Currently there is no cure for these diseases. Read More

Acta Myol 2019 Dec 1;38(4):197-206. Epub 2019 Dec 1.

CRIAMS-Sport Medicine Centre, University of Pavia, Voghera, Italy.

The high level of complexity underlying the heterogeneous pathophysiology of neuromuscular diseases is a fundamental limiting factor in understanding the role of physical activity in their onset and/or clinical evolution. To overcome this difficulty, it is essential to rely on and deep knowledge of the aetiology and on the physiological adaptations to physical exercise, in order to predict how they can impact on the clinical history of each disease. This paper illustrates the possible strategies of intervention in some neuromuscular disorders, through the analysis of their supposed pathogenic mechanisms. Read More

Dis Model Mech 2020 01 13;13(1). Epub 2020 Jan 13.

Mitochondrial and Neuromuscular Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona 08035, Spain

McArdle disease is an autosomal recessive disorder caused by the absence of muscle glycogen phosphorylase, which leads to blocked muscle glycogen breakdown. We used three different cellular models to evaluate the efficiency of different read-through agents (including amlexanox, Ataluren, RTC13 and G418) in McArdle disease. The first model consisted of HeLa cells transfected with two different GFP- constructs presenting the p. Read More

Int J Mol Sci 2019 Nov 25;20(23). Epub 2019 Nov 25.

Achucarro Basque Center for Neuroscience, Science Park of the Universidad del País Vasco/Euskal Herriko Unibertsitatea (UPV/EHU), 48940 Leioa, Spain.

McArdle disease, also known as glycogen storage disease type V (GSDV), is characterized by exercise intolerance, the second wind phenomenon, and high serum creatine kinase activity. Here, we recapitulate mutations in the population responsible for this disease. Traditionally, McArdle disease has been considered a metabolic myopathy caused by the lack of expression of the muscle isoform of the glycogen phosphorylase (PYGM). Read More

Int J Biochem Cell Biol 2020 01 17;118:105658. Epub 2019 Nov 17.

Department of Animal Developmental Biology, Institute of Experimental Biology, Faculty of Biological Sciences, University of Wroclaw, Sienkiewicza 21, 50-335 Wroclaw, Poland.

Muscle glycogen phosphorylase (PYGM) is a key enzyme in the first step of glycogenolysis. Mutation in the PYGM gene leads to autosomal recessive McArdle disease. Patients suffer from exercise intolerance with premature fatigue, muscle cramps and myalgia due to lack of available glucose in muscles. Read More

Med Sci Sports Exerc 2019 11;51(11):2183-2192

Institute of Bioimaging and Molecular Physiology, National Research Council, Segrate, Milan, ITALY.

: The relevance of translational medicine (bringing basic science methods "to the bed of patients") is universally recognized. Too often, however, the tools to be applied translationally are thought to derive only from the "-omics" (genomics, proteomics, transcriptomics, metabolomics, etc.) world. Read More

Ann Clin Transl Neurol 2019 10 14;6(10):1949-1960. Epub 2019 Sep 14.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.

Objective: To study if treatment with triheptanoin, a 7-carbon triglyceride, improves exercise tolerance in patients with McArdle disease. McArdle patients have a complete block in glycogenolysis and glycogen-dependent expansion of tricarboxylic acid cycle (TCA), which may restrict fat oxidation. We hypothesized that triheptanoin metabolism generates substrates for the TCA, which potentially boosts fat oxidation and improves exercise tolerance in McArdle disease. Read More

Hum Mol Genet 2020 01;29(1):20-30

Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia.

McArdle disease is a disorder of carbohydrate metabolism that causes painful skeletal muscle cramps and skeletal muscle damage leading to transient myoglobinuria and increased risk of kidney failure. McArdle disease is caused by recessive mutations in the muscle glycogen phosphorylase (PYGM) gene leading to absence of PYGM enzyme in skeletal muscle and preventing access to energy from muscle glycogen stores. There is currently no cure for McArdle disease. Read More

Clin Rheumatol 2019 Oct 1;38(10):2941-2948. Epub 2019 May 1.

Division of Rheumatology, Department of Internal Medicine, Eskişehir Osmangazi University, 26480, Eskişehir, Turkey.

Gout disease is an inflammatory arthritis that arises due to the accumulation of monosodium urate crystals (MSU) around the joints and in tissues. Clinical manifestation of metabolic diseases leading to secondary hyperuricemia most predominantly occurs in the form of gouty arthritis. Hyperuricemia and gout may develop during the course of glycogen storage diseases (GSD), particularly in GSD type I, which involves the liver. Read More

Ophthalmol Retina 2019 03;3(3):210

Department of Ophthalmology & Visual Sciences, QEII Health Sciences Centre, Halifax, Nova Scotia, Canada.

Sci Rep 2019 03 26;9(1):5116. Epub 2019 Mar 26.

Mitochondrial and Neuromuscular Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain.

McArdle disease is an autosomal recessive disorder caused by the absence of the muscle glycogen phosphorylase, which leads to impairment of glycogen breakdown. The McArdle mouse, a model heavily affected by glycogen accumulation and exercise intolerance, was used to characterize disease progression at three different ages. The molecular and histopathological consequences of the disease were analyzed in five different hind-limb muscles (soleus, extensor digitorum longus, tibialis anterior, gastrocnemius and quadriceps) of young (8-week-old), adult (35-week-old) and old (70-week-old) mice. Read More

CEN Case Rep 2019 08 21;8(3):194-199. Epub 2019 Mar 21.

Department of Nephrology, Hiroshima University Hospital, 1-2-3 Kasumi, Minami-ku, Hiroshima, 7348551, Japan.

McArdle disease (glycogen storage disease type V) is a rare hereditary metabolic myopathy. It can be overlooked clinically because it often presents as chronic asymptomatic hypercreatine phosphokinasemia (hyperCKemia). However, vigorous exercise or infections can trigger severe rhabdomyolysis. Read More